Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1572982

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: HFE: 1007-47G>A; rs1572982

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Der Internist

Publication Date: 2022-04

Variant appearance in text: rs1572982

PubMed Link: 35486136

Variant Present in the following documents:

• 108_2022_Article_1339.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: HFE: 1007-47G>A; rs1572982

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs1572982

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: rs1572982

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs1572982

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

View BVdb publication page

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Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences

Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ

Publication Date: 2020-07-01

Variant appearance in text: rs1572982

PubMed Link: 32630231

Variant Present in the following documents:

• ijms-21-04702-s001.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: HFE: 1007-47G>A; rs1572982

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs1572982

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1572982

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: HFE: 1007-47G>A; rs1572982

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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ALS and CHARGE syndrome: a clinical and genetic study.

Acta Neurologica Belgica

Ungaro, Carmine C; Citrigno, Luigi L; Trojsi, Francesca F; Sprovieri, Teresa T; Gentile, Giulia G; Muglia, Maria M; Monsurrò, Maria Rosaria MR; Tedeschi, Gioacchino G; Cavallaro, Sebastiano S; Conforti, Francesca Luisa FL

Publication Date: 2018-12

Variant appearance in text: rs1572982

PubMed Link: 30317490

Variant Present in the following documents:

• 13760_2018_1029_MOESM3_ESM.pdf

View BVdb publication page

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Genetic and transcriptional evolution alters cancer cell line drug response.

Nature

Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR

Publication Date: 2018-08

Variant appearance in text: HFE: 1007-47G>A; rs1572982

PubMed Link: 30089904

Variant Present in the following documents:

• NIHMS977514-supplement-Sup_Table_17.xlsx, sheet 1
• NIHMS977514-supplement-Sup_Table_5.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs1572982

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1572982

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs1572982

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Analysis of single nucleotide variants of HFE gene and association to survival in The Cancer Genome Atlas GBM data.

Plos One

Lee, Sang Y SY; Zhu, Junjia J; Salzberg, Anna C AC; Zhang, Bo B; Liu, Dajiang J DJ; Muscat, Joshua E JE; Langan, Sara T ST; Connor, James R JR

Publication Date: 2017

Variant appearance in text: rs1572982

PubMed Link: 28358914

Variant Present in the following documents:

• Main text
• pone.0174778.pdf

View BVdb publication page

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Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.

Bmc Genetics

Mikhailova, S V SV; Babenko, V N VN; Ivanoshchuk, D E DE; Gubina, M A MA; Maksimov, V N VN; Solovjova, I G IG; Voevoda, M I MI

Publication Date: 2016-06-17

Variant appearance in text: rs1572982

PubMed Link: 27317329

Variant Present in the following documents:

• Main text
• 12863_2016_Article_396.pdf

View BVdb publication page

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Natural selection on HFE in Asian populations contributes to enhanced non-heme iron absorption.

Bmc Genetics

Ye, Kaixiong K; Cao, Chang C; Lin, Xu X; O'Brien, Kimberly O KO; Gu, Zhenglong Z

Publication Date: 2015-06-10

Variant appearance in text: rs1572982

PubMed Link: 26054392

Variant Present in the following documents:

• Main text
• 12863_2015_Article_223.pdf

View BVdb publication page

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The contribution of diet and genotype to iron status in women: a classical twin study.

Plos One

Fairweather-Tait, Susan J SJ; Guile, Geoffrey R GR; Valdes, Ana M AM; Wawer, Anna A AA; Hurst, Rachel R; Skinner, Jane J; Macgregor, Alexander J AJ

Publication Date: 2013

Variant appearance in text: rs1572982

PubMed Link: 24391736

Variant Present in the following documents:

• Main text
• pone.0083047.pdf

View BVdb publication page

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Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin.

Neurobiology Of Disease

Rhodes, Shannon L SL; Buchanan, Daniel D DD; Ahmed, Ismaïl I; Taylor, Kent D KD; Loriot, Marie-Anne MA; Sinsheimer, Janet S JS; Bronstein, Jeff M JM; Elbaz, Alexis A; Mellick, George D GD; Rotter, Jerome I JI; Ritz, Beate B

Publication Date: 2014-02

Variant appearance in text: rs1572982

PubMed Link: 24121126

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hemochromatosis (HFE) gene mutations and risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) study.

Carcinogenesis

Agudo, Antonio A; Bonet, Catalina C; Sala, Núria N; Muñoz, Xavier X; Aranda, Núria N; Fonseca-Nunes, Ana A; Clavel-Chapelon, Françoise F; Boutron-Ruault, Marie Christine MC; Vineis, Paolo P; Panico, Salvatore S; Palli, Domenico D; Tumino, Rosario R; Grioni, Sara S; Quirós, J Ramón JR; Molina, Esther E; Navarro, Carmen C; Barricarte, Aurelio A; Chamosa, Saioa S; Allen, Naomi E NE; Khaw, Kay-Tee KT; Bueno-de-Mesquita, H Bas HB; Siersema, Peter D PD; Numans, Mattijs E ME; Trichopoulou, Antonia A; Lagiou, Pagona P; Trichopoulos, Dimitrios D; Kaaks, Rudof R; Canzian, Federico F; Boeing, Heiner H; Meidtner, Karina K; Johansson, Mattias M; Sund, Malin M; Manjer, Jonas J; Overvad, Kim K; Tjonneland, Anne A; Lund, Eiliv E; Weiderpass, Elisabete E; Jenab, Mazda M; Fedirko, Veronika V; Offerhaus, G Johan A GJ; Riboli, Elio E; González, Carlos A CA; Jakszyn, Paula P

Publication Date: 2013-06

Variant appearance in text: rs1572982

PubMed Link: 23389292

Variant Present in the following documents:

• Main text

View BVdb publication page

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A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.

Bmc Genetics

Sebastiani, Paola P; Zhao, Zhenming Z; Abad-Grau, Maria M MM; Riva, Alberto A; Hartley, Stephen W SW; Sedgewick, Amanda E AE; Doria, Alessandro A; Montano, Monty M; Melista, Efthymia E; Terry, Dellara D; Perls, Thomas T TT; Steinberg, Martin H MH; Baldwin, Clinton T CT

Publication Date: 2008-01-14

Variant appearance in text: rs1572982

PubMed Link: 18194558

Variant Present in the following documents:

• Main text
• 1471-2156-9-6.pdf

View BVdb publication page

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